Submissions for variant NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)

gnomAD frequency: 0.19072  dbSNP: rs2228526

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000116997	SCV000222802	benign	not specified	2012-06-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116997	SCV000226719	benign	not specified	2014-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116997	SCV000302374	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322054	SCV000362797	benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378942	SCV000362798	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287947	SCV000362799	benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001519186	SCV001728011	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519186	SCV001943699	benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17438655)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116997	SCV002051093	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116997	SCV000151118	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116997	SCV001741556	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116997	SCV001957968	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116997	SCV001964216	benign	not specified		no assertion criteria provided	clinical testing